T282M (p.Thr282Met) variant of AGTR1 (Type-1 angiotensin II receptor)
T282M (p.Thr282Met) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T282M (p.Thr282Met) variant details
- p.Thr282Met
- rs104893677
- ClinGen CA127782
- ClinVar RCV000019690
- UniProt VAR 035086
- Pathogenic
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.40
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Renal tubular dysgenesis)
- EBI: Pathogenic (in RTD)
- UniProt: Pathogenic (in RTD)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PMID 16116425)